I had a healthy pregnancy, Alfie was born at home 6 days overdue. On day 3 Alfie developed umbilical sepsis and was not responding to treatment. He got transferred to Birmingham for surgery then he started to recover. In this time we become aware of two holes in Alfie’s heart.
I noticed strange movements when Alfie was 4 months old, I took videos and went to GP on two occasions. I was told Alfie was having a nightmare and the second visit that he had a virus. Alfie is my third son, I knew what I was seeing was not normal. I rang the health visitor, I was concerned about his development. He couldn’t hold his head and I was worried to start offering him food. She put in an urgent referral to community paediatrics but the GP said it wasn’t urgent and put him on a waiting list. It wasn’t until he was admitted to our local hospital at 6 months old with sepsis and a non-blanching rash that the staff on ward witnessed the movements I had been seeing. Alfie had an emergency EEG which was chaotic and was diagnosed with Infantile Spasms. He got put straight on medication. I looked for support online and found UKIST and connected with a great group of people. Just reading other stories to relate to and looking for hope really took some of the mental load.
The consultants decided to do genetics testing because of the IS, holes in heart and reoccurring sepsis. Few months later Alfie got his diagnosis of ALG13 (a rare single gene epilepsy). Alfie has been on many treatments for his seizures. Vigabatrin, sodium valproate, nitrazepam, prednisolone, ACTH injections. Alfie was on a medical Ketogenic diet for 2 and a half years which I believe stopped his tonic clonic seizures. There was a time he was in resus weekly and I didn’t know what was going to happen.
Alfie’s seizures have progressed and he now has a diagnosis of Lennox Gastaut syndrome. He is now on sodium valproate, clobazam and epidiolex. Alfie has never had a day seizure free and shows a great variation of seizures. Daily Alfie will have absences, tonics and gelastic seizures.
Alfie is the most beautiful little boy and once seizures calmed down and his medications were changed he gained the strength to support his head and to roll. He is working hard on sitting up
with support. Alfie has visual impairment but is able to fix and follow occasionally with the right environment. Alfie loves to hold hands and to be spoken to, sung to, I now get rewarded with
the cutest dimple smiles. There was a time I didn’t know if Alfie knew I was his mum or if he was happy, he was vacant all the time. It fills my heart how well he has progressed.
Never doubt your self as a parent, get advice, reach out for support. The strength you will find to advocate your children is beyond belief.
Laura Retallick – Alfie Retallick (4)
Infantile spasms are a type of seizures seen in babies in their first two years of life. When a diagnosis is made a search begins for an underlying cause – there are more than 200 different conditions that can result in infantile spasms. ALG13 related epilepsy is a rare, X linked genetic epilepsy caused by a variant in the ALG13 gene. It causes early onset severe epilepsy, developmental delay and low tone.
